PhenoModifier-Gene Detail

Gene "STARD13"

Found 3 records

Gene information

Gene symbol:

STARD13

See related:

Ensembl: ENSG00000133121, Gene ID: 90627

Additive variants :

Detected

Genetic interaction partners

Confidence	Stringent (ε>0.16 or ε<-0.12)	Intermediate (-0.16≤ε≤-0.08 or 0.08≤ε≤0.16)	Lenient (\|ε\|<0.08)
Positive interactions	ZFP42 NUDT5 RPL6 PIGG RAD52 MAP3K2 ANKZF1 ACER3 SGPL1 GCLC ZDHHC17 FASN GRTP1 NAPEPLD PDCD6IP TRAPPC6A PSD3 SORT1 WDR48 ATP7B EIF2B1 TRIP12 LIPT1 GATA2 FKBP7 MRI1 RBM22 GPD1L RPS9 CDC25B MSRA TRNAU1AP C2orf76 SCAP SLC25A35 EIF5A2 ISCU AP2A2 NME1-NME2 show allhide
Negative interactions	KATNA1 CHMP3 BIN3 CHAC1 USP10 ZADH2 BUD31 FIS1 RAB5B MAF1 RRP8 PPM1G RACK1 VPS8 SAC3D1 ABHD2 CHN1 ALG6 CSNK2B ASH1L PPIAL4A PRKG2 RPS7 TRMT11 REXO5 PGLS TBC1D22A MAP3K4 VPS35 METTL2A ISCU ZNF598 PPM1B RPL7A DGAT1 DPP6 DICER1 NIT1 MORF4L1 ALG3 ETFA CCNA2 METTL18 PUS7L REV3L GPT WRN RPS21 KDM4A PKLR CAPZA2 RPL10A ABCG2 EVI5 RNF10 show allhide

Modifier statisitcs

Record:

Disorder:

Vriant:

Reference:

Effect type:

Expressivity(3)

Modifier effect:

Risk factor(3)

Details：

Variant 1:

STARD13:n.33667465G>A

Gene:

STARD13

Genomic location:

chr13:33667465

dbSNP ID:

rs648464

Target disease:

Necrosis(EFO_0009426)

Effect type:

Expressivity

Modifier effect:

Risk factor

Evidence:

Assessment of genotype–phenotype associations

Effect:

Bone morphogenic protein 6, annexin A2, and klotho were associated with sickle cell osteonecrosis and at high risk for osteonecrosis.

Reference:

PMID15784727

Title:

Association of klotho, bone morphogenic protein 6, and annexin A2 polymorphisms with sickle cell osteonecrosis.

Species studied:

Human

Abstract:

In patients with sickle cell disease, clinical complications including osteonecrosis can vary in frequency and severity, presumably due to the effects of genes that modify the pathophysiology initiated by the sickle mutation. Here, we examined the association of single nucleotide polymorphisms (SNPs) in candidate genes (cytokines, inflammation, oxidant stress, bone metabolism) with osteonecrosis in patients with sickle cell disease. Genotype distributions were compared between cases and controls using multiple logistic regression techniques. An initial screen and follow-up studies showed that individual SNPs and haplotypes composed of several SNPs in bone morphogenic protein 6, annexin A2, and klotho were associated with sickle cell osteonecrosis. These genes are important in bone morphology, metabolism, and vascular disease. Our results may provide insight into the pathogenesis of osteonecrosis in sickle cell disease, help identify individuals who are at high risk for osteonecrosis, and thus allow earlier and more effective therapeutic intervention.
Variant 2:

STARD13:c.3225-197A>G

Gene:

STARD13

Genomic location:

chr13:33680044

dbSNP ID:

rs475303

Target disease:

Necrosis(EFO_0009426)

Effect type:

Expressivity

Modifier effect:

Risk factor

Evidence:

Assessment of genotype–phenotype associations

Effect:

Bone morphogenic protein 6, annexin A2, and klotho were associated with sickle cell osteonecrosis and at high risk for osteonecrosis.

Reference:

PMID15784727

Title:

Association of klotho, bone morphogenic protein 6, and annexin A2 polymorphisms with sickle cell osteonecrosis.

Species studied:

Human

Abstract:

In patients with sickle cell disease, clinical complications including osteonecrosis can vary in frequency and severity, presumably due to the effects of genes that modify the pathophysiology initiated by the sickle mutation. Here, we examined the association of single nucleotide polymorphisms (SNPs) in candidate genes (cytokines, inflammation, oxidant stress, bone metabolism) with osteonecrosis in patients with sickle cell disease. Genotype distributions were compared between cases and controls using multiple logistic regression techniques. An initial screen and follow-up studies showed that individual SNPs and haplotypes composed of several SNPs in bone morphogenic protein 6, annexin A2, and klotho were associated with sickle cell osteonecrosis. These genes are important in bone morphology, metabolism, and vascular disease. Our results may provide insight into the pathogenesis of osteonecrosis in sickle cell disease, help identify individuals who are at high risk for osteonecrosis, and thus allow earlier and more effective therapeutic intervention.
Variant 3:

STARD13:c.*2635C>T

Gene:

STARD13

Genomic location:

chr13:33689738

dbSNP ID:

rs538874

Target disease:

Necrosis(EFO_0009426)

Effect type:

Expressivity

Modifier effect:

Risk factor

Evidence:

Assessment of genotype–phenotype associations

Effect:

Bone morphogenic protein 6, annexin A2, and klotho were associated with sickle cell osteonecrosis and at high risk for osteonecrosis.

Reference:

PMID15784727

Title:

Association of klotho, bone morphogenic protein 6, and annexin A2 polymorphisms with sickle cell osteonecrosis.

Species studied:

Human

Abstract:

In patients with sickle cell disease, clinical complications including osteonecrosis can vary in frequency and severity, presumably due to the effects of genes that modify the pathophysiology initiated by the sickle mutation. Here, we examined the association of single nucleotide polymorphisms (SNPs) in candidate genes (cytokines, inflammation, oxidant stress, bone metabolism) with osteonecrosis in patients with sickle cell disease. Genotype distributions were compared between cases and controls using multiple logistic regression techniques. An initial screen and follow-up studies showed that individual SNPs and haplotypes composed of several SNPs in bone morphogenic protein 6, annexin A2, and klotho were associated with sickle cell osteonecrosis. These genes are important in bone morphology, metabolism, and vascular disease. Our results may provide insight into the pathogenesis of osteonecrosis in sickle cell disease, help identify individuals who are at high risk for osteonecrosis, and thus allow earlier and more effective therapeutic intervention.